Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome
Abstract Background Hermansky–Pudlak syndrome (HPS) is an uncommon autosomal recessive disease that presents with bleeding diathesis and oculocutaneous albinism (OCA). Mutations in genes related to the synthesis of organelles connected to lysosomes cause this disease. Herein, we report a case of an...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-08-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00761-0 |
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